Millions of uncommon genetic variants found in Swedish study

2017-08-30

An extensive exercise to map genetic variation in Sweden has found 33 million genetic variants, 10 million of which were previously unknown. Large-scale DNA sequencing methods were used to analyse the whole genome of 1,000 individuals from different parts of the country. The study was led by researchers at IGP, who have published their findings in the European Journal of Human Genetics.

The information has been made available as an open resource for life science researchers and will benefit many national research projects investigating the association between genetic variants and diseases.

The data will also be of immediate use in clinical diagnostics to determine whether a genetic variation in a patient is a cause of disease, or if it is also present among healthy individuals in the population.